MovDisordV3, PascalFrancis, Corpus, bibRecord, 000874

Comprehensive Sequencing of the LRRK2 Gene in Patients with Familial Parkinson's Disease from North Africa

Identifieur interne : 000874 ( PascalFrancis/Corpus ); précédent : 000873; suivant : 000875

Comprehensive Sequencing of the LRRK2 Gene in Patients with Familial Parkinson's Disease from North Africa

Auteurs : Barbara Jasinska-Myga ; Jennifer Kachergus ; Carles Vilarino-Güell ; Christian Wider ; Alexandra I. Soto-Ortolaza ; Mounir Kefi ; Lefkos T. Middleton ; Lianna Ishihara-Paul ; Rachel A. Gibson ; Rim Amouri ; SAMIA BEN YAHMED ; SAMIA BEN SASSI ; Mourad Zouari ; Ghada El Euch ; Owen A. Ross ; Faycal Hentati ; Matthew J. Farrer

Source :

Movement disorders [ 0885-3185 ] ; 2010.

RBID : Pascal:10-0474357

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Pathologie du système nerveux, Séquence nucléotide, Séquençage, Homme, Maladie familiale, Afrique du Nord.

English descriptors

KwdEn :
- Familial disease, Human, Nervous system diseases, North Africa, Nucleotide sequence, Parkinson disease, Sequencing.

Abstract

The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S-negative patients with sporadic PD and 365 Lrrk2 p.G2019S-negative healthy control subjects, all from the same Arab-Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A11	`02`	`1`		`@1 KACHERGUS (Jennifer)`
A11	`03`	`1`		`@1 VILARINO-GÜELL (Carles)`
A11	`04`	`1`		`@1 WIDER (Christian)`
A11	`05`	`1`		`@1 SOTO-ORTOLAZA (Alexandra I.)`
A11	`06`	`1`		`@1 KEFI (Mounir)`
A11	`07`	`1`		`@1 MIDDLETON (Lefkos T.)`
A11	`08`	`1`		`@1 ISHIHARA-PAUL (Lianna)`
A11	`09`	`1`		`@1 GIBSON (Rachel A.)`
A11	`10`	`1`		`@1 AMOURI (Rim)`
A11	`11`	`1`		`@1 SAMIA BEN YAHMED`
A11	`12`	`1`		`@1 SAMIA BEN SASSI`
A11	`13`	`1`		`@1 ZOUARI (Mourad)`
A11	`14`	`1`		`@1 EL EUCH (Ghada)`
A11	`15`	`1`		`@1 ROSS (Owen A.)`
A11	`16`	`1`		`@1 HENTATI (Faycal)`
A11	`17`	`1`		`@1 FARRER (Matthew J.)`
A14	`01`			`@1 Division of Neurogenetics, Department of Neuroscience, Mayo Clinic @2 Jacksonville, Florida @3 USA @Z 1 aut. @Z 2 aut. @Z 3 aut. @Z 4 aut. @Z 5 aut. @Z 15 aut. @Z 17 aut.`
A14	`02`			`@1 Department of Neurology, Medical University of Silesia @2 Katowice @3 POL @Z 1 aut.`
A14	`03`			`@1 Service de Neurologie, Institut National de Neurologie @2 La Rabta, Tunis @3 TUN @Z 6 aut. @Z 10 aut. @Z 11 aut. @Z 12 aut. @Z 13 aut. @Z 14 aut. @Z 16 aut.`
A14	`04`			`@1 Division of Neuroscience, Imperial College London @2 London @3 GBR @Z 7 aut.`
A14	`05`			`@1 Research and Development, GlaxoSmithKline Pharmaceuticals Ltd. @2 Harlow @3 GBR @Z 8 aut. @Z 9 aut.`
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A21				`@1 2010`
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A44				`@0 0000 @1 © 2010 INIST-CNRS. All rights reserved.`
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C01	`01`		`ENG`	@0 The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S-negative patients with sporadic PD and 365 Lrrk2 p.G2019S-negative healthy control subjects, all from the same Arab-Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C03	`01`	`X`	`FRE`	`@0 Maladie de Parkinson @2 NM @5 01`
C03	`01`	`X`	`ENG`	`@0 Parkinson disease @2 NM @5 01`
C03	`01`	`X`	`SPA`	`@0 Parkinson enfermedad @2 NM @5 01`
C03	`02`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 02`
C03	`02`	`X`	`ENG`	`@0 Nervous system diseases @5 02`
C03	`02`	`X`	`SPA`	`@0 Sistema nervioso patología @5 02`
C03	`03`	`X`	`FRE`	`@0 Séquence nucléotide @5 09`
C03	`03`	`X`	`ENG`	`@0 Nucleotide sequence @5 09`
C03	`03`	`X`	`SPA`	`@0 Secuencia nucleótido @5 09`
C03	`04`	`X`	`FRE`	`@0 Séquençage @5 10`
C03	`04`	`X`	`ENG`	`@0 Sequencing @5 10`
C03	`04`	`X`	`SPA`	`@0 Sequencing @5 10`
C03	`05`	`X`	`FRE`	`@0 Homme @5 11`
C03	`05`	`X`	`ENG`	`@0 Human @5 11`
C03	`05`	`X`	`SPA`	`@0 Hombre @5 11`
C03	`06`	`X`	`FRE`	`@0 Maladie familiale @2 NM @5 12`
C03	`06`	`X`	`ENG`	`@0 Familial disease @2 NM @5 12`
C03	`06`	`X`	`SPA`	`@0 Enfermedad familiar @2 NM @5 12`
C03	`07`	`X`	`FRE`	`@0 Afrique du Nord @2 NG @5 13`
C03	`07`	`X`	`ENG`	`@0 North Africa @2 NG @5 13`
C03	`07`	`X`	`SPA`	`@0 Africa del norte @2 NG @5 13`
C07	`01`	`X`	`FRE`	`@0 Afrique @2 NG`
C07	`01`	`X`	`ENG`	`@0 Africa @2 NG`
C07	`01`	`X`	`SPA`	`@0 Africa @2 NG`
C07	`02`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 37`
C07	`02`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`02`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`03`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 38`
C07	`03`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 38`
C07	`03`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 38`
C07	`04`	`X`	`FRE`	`@0 Maladie dégénérative @5 39`
C07	`04`	`X`	`ENG`	`@0 Degenerative disease @5 39`
C07	`04`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 39`
C07	`05`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 40`
C07	`05`	`X`	`ENG`	`@0 Central nervous system disease @5 40`
C07	`05`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 40`
N21				`@1 312`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Format Inist (serveur)

NO :	PASCAL 10-0474357 INIST
ET :	Comprehensive Sequencing of the LRRK2 Gene in Patients with Familial Parkinson's Disease from North Africa
AU :	JASINSKA-MYGA (Barbara); KACHERGUS (Jennifer); VILARINO-GÜELL (Carles); WIDER (Christian); SOTO-ORTOLAZA (Alexandra I.); KEFI (Mounir); MIDDLETON (Lefkos T.); ISHIHARA-PAUL (Lianna); GIBSON (Rachel A.); AMOURI (Rim); SAMIA BEN YAHMED; SAMIA BEN SASSI; ZOUARI (Mourad); EL EUCH (Ghada); ROSS (Owen A.); HENTATI (Faycal); FARRER (Matthew J.)
AF :	Division of Neurogenetics, Department of Neuroscience, Mayo Clinic/Jacksonville, Florida/Etats-Unis (1 aut., 2 aut., 3 aut., 4 aut., 5 aut., 15 aut., 17 aut.); Department of Neurology, Medical University of Silesia/Katowice/Pologne (1 aut.); Service de Neurologie, Institut National de Neurologie/La Rabta, Tunis/Tunisie (6 aut., 10 aut., 11 aut., 12 aut., 13 aut., 14 aut., 16 aut.); Division of Neuroscience, Imperial College London/London/Royaume-Uni (7 aut.); Research and Development, GlaxoSmithKline Pharmaceuticals Ltd./Harlow/Royaume-Uni (8 aut., 9 aut.)
DT :	Publication en série; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 13; Pp. 2052-2058; Bibl. 26 ref.
LA :	Anglais
EA :	The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S-negative patients with sporadic PD and 365 Lrrk2 p.G2019S-negative healthy control subjects, all from the same Arab-Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population.
CC :	002B17; 002B17G
FD :	Maladie de Parkinson; Pathologie du système nerveux; Séquence nucléotide; Séquençage; Homme; Maladie familiale; Afrique du Nord
FG :	Afrique; Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central
ED :	Parkinson disease; Nervous system diseases; Nucleotide sequence; Sequencing; Human; Familial disease; North Africa
EG :	Africa; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease
SD :	Parkinson enfermedad; Sistema nervioso patología; Secuencia nucleótido; Sequencing; Hombre; Enfermedad familiar; Africa del norte
LO :	INIST-20953.354000193258110070
ID :	10-0474357

Links to Exploration step

Pascal:10-0474357

Le document en format XML

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<author><name sortKey="Zouari, Mourad" sort="Zouari, Mourad" uniqKey="Zouari M" first="Mourad" last="Zouari">Mourad Zouari</name>
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<author><name sortKey="El Euch, Ghada" sort="El Euch, Ghada" uniqKey="El Euch G" first="Ghada" last="El Euch">Ghada El Euch</name>
<affiliation><inist:fA14 i1="03"><s1>Service de Neurologie, Institut National de Neurologie</s1>
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<author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name>
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<author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name>
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<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<affiliation><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, Florida</s2>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Comprehensive Sequencing of the LRRK2 Gene in Patients with Familial Parkinson's Disease from North Africa</title>
<author><name sortKey="Jasinska Myga, Barbara" sort="Jasinska Myga, Barbara" uniqKey="Jasinska Myga B" first="Barbara" last="Jasinska-Myga">Barbara Jasinska-Myga</name>
<affiliation><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
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<affiliation><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic</s1>
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<affiliation><inist:fA14 i1="03"><s1>Service de Neurologie, Institut National de Neurologie</s1>
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<affiliation><inist:fA14 i1="03"><s1>Service de Neurologie, Institut National de Neurologie</s1>
<s2>La Rabta, Tunis</s2>
<s3>TUN</s3>
<sZ>6 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
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<affiliation><inist:fA14 i1="03"><s1>Service de Neurologie, Institut National de Neurologie</s1>
<s2>La Rabta, Tunis</s2>
<s3>TUN</s3>
<sZ>6 aut.</sZ>
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<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
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<affiliation><inist:fA14 i1="03"><s1>Service de Neurologie, Institut National de Neurologie</s1>
<s2>La Rabta, Tunis</s2>
<s3>TUN</s3>
<sZ>6 aut.</sZ>
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<affiliation><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, Florida</s2>
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<sZ>1 aut.</sZ>
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<author><name sortKey="Hentati, Faycal" sort="Hentati, Faycal" uniqKey="Hentati F" first="Faycal" last="Hentati">Faycal Hentati</name>
<affiliation><inist:fA14 i1="03"><s1>Service de Neurologie, Institut National de Neurologie</s1>
<s2>La Rabta, Tunis</s2>
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<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<affiliation><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, Florida</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2010">2010</date>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Familial disease</term>
<term>Human</term>
<term>Nervous system diseases</term>
<term>North Africa</term>
<term>Nucleotide sequence</term>
<term>Parkinson disease</term>
<term>Sequencing</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Pathologie du   système nerveux</term>
<term>Séquence nucléotide</term>
<term>Séquençage</term>
<term>Homme</term>
<term>Maladie familiale</term>
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<front><div type="abstract" xml:lang="en">The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S-negative patients with sporadic PD and 365 Lrrk2 p.G2019S-negative healthy control subjects, all from the same Arab-Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population.</div>
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<fA08 i1="01" i2="1" l="ENG"><s1>Comprehensive Sequencing of the LRRK2 Gene in Patients with Familial Parkinson's Disease from North Africa</s1>
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<fA14 i1="01"><s1>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic</s1>
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<sZ>5 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>17 aut.</sZ>
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<fA14 i1="02"><s1>Department of Neurology, Medical University of Silesia</s1>
<s2>Katowice</s2>
<s3>POL</s3>
<sZ>1 aut.</sZ>
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<fA14 i1="03"><s1>Service de Neurologie, Institut National de Neurologie</s1>
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<sZ>10 aut.</sZ>
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<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>16 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>Division of Neuroscience, Imperial College London</s1>
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<s3>GBR</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Research and Development, GlaxoSmithKline Pharmaceuticals Ltd.</s1>
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<sZ>8 aut.</sZ>
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<fA20><s1>2052-2058</s1>
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<fC01 i1="01" l="ENG"><s0>The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S-negative patients with sporadic PD and 365 Lrrk2 p.G2019S-negative healthy control subjects, all from the same Arab-Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population.</s0>
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</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
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<s2>NM</s2>
<s5>01</s5>
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<s5>01</s5>
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<fC03 i1="03" i2="X" l="ENG"><s0>Nucleotide sequence</s0>
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<fC03 i1="03" i2="X" l="SPA"><s0>Secuencia nucleótido</s0>
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<s5>10</s5>
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<s5>11</s5>
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<s5>39</s5>
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<fC07 i1="05" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>40</s5>
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<server><NO>PASCAL 10-0474357 INIST</NO>
<ET>Comprehensive Sequencing of the LRRK2 Gene in Patients with Familial Parkinson's Disease from North Africa</ET>
<AU>JASINSKA-MYGA (Barbara); KACHERGUS (Jennifer); VILARINO-GÜELL (Carles); WIDER (Christian); SOTO-ORTOLAZA (Alexandra I.); KEFI (Mounir); MIDDLETON (Lefkos T.); ISHIHARA-PAUL (Lianna); GIBSON (Rachel A.); AMOURI (Rim); SAMIA BEN YAHMED; SAMIA BEN SASSI; ZOUARI (Mourad); EL EUCH (Ghada); ROSS (Owen A.); HENTATI (Faycal); FARRER (Matthew J.)</AU>
<AF>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic/Jacksonville, Florida/Etats-Unis (1 aut., 2 aut., 3 aut., 4 aut., 5 aut., 15 aut., 17 aut.); Department of Neurology, Medical University of Silesia/Katowice/Pologne (1 aut.); Service de Neurologie, Institut National de Neurologie/La Rabta, Tunis/Tunisie (6 aut., 10 aut., 11 aut., 12 aut., 13 aut., 14 aut., 16 aut.); Division of Neuroscience, Imperial College London/London/Royaume-Uni (7 aut.); Research and Development, GlaxoSmithKline Pharmaceuticals Ltd./Harlow/Royaume-Uni (8 aut., 9 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 13; Pp. 2052-2058; Bibl. 26 ref.</SO>
<LA>Anglais</LA>
<EA>The LRRK2 gene is a key player in Parkinson's disease (PD), however prevalence and pathogenicity of LRRK2 variants remain to be investigated in ethnically diverse populations. Herein, we performed comprehensive sequencing of the LRRK2 gene in 92 Tunisian probands with familial PD. We then performed an association study using all identified variants in a series of 167 Lrrk2 p.G2019S-negative patients with sporadic PD and 365 Lrrk2 p.G2019S-negative healthy control subjects, all from the same Arab-Berber ethnicity. We identified one novel coding substitution (p.M2408I) and 24 known coding changes. Only the Lrrk2 p.G2019S mutation segregated with disease within families and was found in 39% of familial probands. None of the variants displayed significant association with risk for sporadic PD, however a trend was observed for Lrrk2 p.Y2189C. The present study underscores the importance of the LRRK2 gene in the Tunisian PD population.</EA>
<CC>002B17; 002B17G</CC>
<FD>Maladie de Parkinson; Pathologie du   système nerveux; Séquence nucléotide; Séquençage; Homme; Maladie familiale; Afrique du Nord</FD>
<FG>Afrique; Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central</FG>
<ED>Parkinson disease; Nervous system diseases; Nucleotide sequence; Sequencing; Human; Familial disease; North Africa</ED>
<EG>Africa; Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG>
<SD>Parkinson enfermedad; Sistema nervioso patología; Secuencia nucleótido; Sequencing; Hombre; Enfermedad familiar; Africa del norte</SD>
<LO>INIST-20953.354000193258110070</LO>
<ID>10-0474357</ID>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Comprehensive Sequencing of the LRRK2 Gene in Patients with Familial Parkinson's Disease from North Africa

Comprehensive Sequencing of the LRRK2 Gene in Patients with Familial Parkinson's Disease from North Africa

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